Ongoing contributions to both ClinVar and patient registries. Learn more >

Meeting and exceeding standards for accreditation at national and state levels, including College of American Pathologists (CAP) accreditation and Clinical Laboratory Improvement Amendments (CLIA) certification. Learn more >

Variant classification

Invitae’s variant classifications are based on a rigorous, logical, and reproducible assessment of available evidence. Our method of variant interpretation enables us to be comprehensive in our review of the available literature and evidence, transparent in our logic and our conclusions, and clear in our explanations.

Our systematic process adheres closely to the recommendations from the American College of Medical Genetics (ACMG) and was published in Genetics in Medicine, the official journal of ACMG. It represents the industry standard among clinical genetic testing laboratories. Learn more >

Del/dup events account for a significant proportion of pathogenic changes in hereditary disorders. Other commercially available gene panels and standard exome sequencing approaches do not always include del/dup testing or may have significant limitations, which can result in missing an important genetic change. Learn more >

Data sharing

Invitae submits all clinically reported variants, their classifications (i.e., pathogenic, benign, VUS, etc.) and the underlying evidence for and against pathogenicity to ClinVar. The sharing of data through ClinVar is unique in that it allows ongoing:

inter-laboratory quality control

detailed peer review of variant classifications

consensus classification by the global community of experts

No other mechanism, including published scientific papers, solves these important problems. We encourage you to ask other testing providers if they share all variants, classifications, and evidence to public databases. Learn more >

Does the testing you provide your patients meet a high standard of excellence?